DisGeNET - a database of gene-disease associations

List of associated variants

Amyotrophic Lateral Sclerosis, Sporadic, C1862941

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs75932628	LOC105375056 ; TREM2	0.662	0.480	6	41161514	missense variant	C/A;T	snv	6.8E-05; 2.6E-03		28
rs80265967	SOD1	0.732	0.200	21	31667290	missense variant	A/C;T	snv	1.4E-03	1.2E-03	16
rs74315452	SOD1	0.732	0.160	21	31667356	missense variant	T/C	snv			12
rs587781858	TP53	0.742	0.360	17	7669671	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		12
rs3849942	C9orf72 ; LOC107987057	0.776	0.200	9	27543283	non coding transcript exon variant	T/A;C	snv			9
rs363371		0.882	0.120	10	117226885	TF binding site variant	G/A	snv		0.19	5
rs3849943	C9orf72 ; LOC107987057	0.827	0.080	9	27543384	non coding transcript exon variant	C/G;T	snv			5
rs2412208	CAMTA1	0.827	0.080	1	7032722	intron variant	T/G	snv		0.33	5
rs139550538	IDE	0.827	0.080	10	92524312	intron variant	T/A	snv		1.9E-02	5
rs34517613	KRT18P55	0.827	0.080	17	28283226	intron variant	C/T	snv		9.1E-02	5
rs616147	MOBP	0.827	0.080	3	39492990	intron variant	A/G	snv		0.76	5
rs35714695	SARM1	0.827	0.080	17	28392769	intron variant	G/A;T	snv		0.12	5
rs774994509	SOD1	0.851	0.080	21	31667296	missense variant	A/G	snv	4.0E-06		5
rs12608932	UNC13A	0.827	0.080	19	17641880	intron variant	A/C	snv		0.36	5